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NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 22, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001000714.8

Allele description [Variation Report for NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)]

NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)

Gene:
CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q12.2
Genomic location:
Preferred name:
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)
HGVS:
  • NC_000008.11:g.60841856G>T
  • NG_007009.1:g.168077G>T
  • NM_001316690.1:c.1717-20373G>T
  • NM_017780.4:c.4654G>TMANE SELECT
  • NP_060250.2:p.Val1552Phe
  • LRG_176:g.168077G>T
  • NC_000008.10:g.61754415G>T
Protein change:
V1552F
Links:
dbSNP: rs1586426507
NCBI 1000 Genomes Browser:
rs1586426507
Molecular consequence:
  • NM_001316690.1:c.1717-20373G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_017780.4:c.4654G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001157755ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(Jul 22, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157755.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Val1552Phe variant has not been reported in the medical literature, gene specific variant databases including ClinVar, nor has it been previously identified by our laboratory. However, valine 1552 is a highly conserved amino acid and computational prediction programs suggest a deleterious effect of this variant on protein structure/function (SIFT: damaging, PolyPhen-2: probably damaging, REVEL score 0.782). Based on the available evidence, this de novo rare missense CHD7 variant was classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023